8 results on '"Rohan, Laura"'
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2. P270: The diagnostic dilemma of tissue specific mosaicism: A case of mosaic supernumerary chromosome 8 detected via buccal sample
3. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
4. The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine
5. Nicotinamide is an endogenous agonist for a C. elegans TRPV OSM-9 and OCR-4 channel
6. OP099 - The relevance of deep genomic analyses in families with variably expressive CNVs in the era of personalized medicine.
7. Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
8. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
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